Rivka Carmi
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Israeli pediatrician and geneticist
Rivka Carmi's AcademicInfluence.com Rankings
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#3027
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#4690
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#632
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#716
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#7821
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#11083
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#10728
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Why Is Rivka Carmi Influential?
(Suggest an Edit or Addition)According to Wikipedia, Rivka Carmi is an Israeli pediatrician and geneticist. She served as President of Ben-Gurion University of the Negev from May 2006 until December 2018. Carmi is the first woman to be appointed president of an Israeli university.
Rivka Carmi's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. (1997) (1404)
- Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (2002) (534)
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
- Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (2006) (434)
- Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. (2004) (393)
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 (2001) (270)
- Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (2001) (268)
- Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss (1998) (265)
- Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. (1994) (233)
- Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). (2004) (232)
- Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (1995) (191)
- Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity (1993) (185)
- Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. (1992) (176)
- Familial aggregation in the fihromyalgia syndrome (1996) (154)
- Use of isolated inbred human populations for identification of disease genes. (1998) (132)
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
- Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. (1994) (118)
- Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (1999) (110)
- Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. (1995) (110)
- Familial aggregation in the fibromyalgia syndrome. (1996) (107)
- Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. (1993) (104)
- Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population (1998) (101)
- Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. (1997) (98)
- Clinical presentation and outcome in primary familial hypomagnesaemia (1998) (97)
- Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. (1998) (84)
- Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. (1995) (84)
- Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H (1998) (84)
- Decisions regarding pregnancy termination among Bedouin couples referred to third level ultrasound clinic. (1998) (83)
- Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. (1992) (79)
- Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (1995) (77)
- An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. (1996) (77)
- A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. (1998) (76)
- Aplasia cutis congenita in two sibs discordant for pylori atresia (1982) (71)
- Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. (1998) (69)
- Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. (2007) (68)
- Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. (1998) (65)
- A targeted population carrier screening program for severe and frequent genetic diseases in Israel (2009) (65)
- Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome (2005) (63)
- The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder. (1990) (62)
- (+)-(S)-dihydroaeruginoic acid, an inhibitor of Septoria tritici and other phytopathogenic fungi and bacteria, produced by Pseudomonas fluorescens. (1994) (52)
- The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. (1999) (51)
- Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. (1990) (47)
- Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? (1990) (44)
- Between Acculturation and Ambivalence: Knowledge of Genetics and Attitudes towards Genetic Testing in a Consanguineous Bedouin Community (2003) (43)
- Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (1998) (43)
- Aplasia cutis congenita in two sibs discordant for pyloric atresia. (1982) (42)
- Human situs determination is probably controlled by several different genes. (1992) (39)
- Spontaneous abortion--high risk factor for neural tube defects in subsequent pregnancy. (1994) (38)
- Refined genetic mapping of X-linked thoracoabdominal syndrome. (1996) (37)
- Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. (1998) (35)
- Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. (1994) (33)
- Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (treacher collins syndrome) (1991) (33)
- The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. (1990) (32)
- Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C (2001) (31)
- Tricyclic antidepressants and calcium channel blockers: interactions at the (-)-desmethoxyverapamil binding site and the serotonin transporter. (1988) (30)
- Mapping of an X-linked gene for ventral midline defects (the TAS gene). (1996) (27)
- Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. (1999) (27)
- Niemann-Pick disease associated with nonimmune hydrops fetalis. (1990) (26)
- The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. (1983) (26)
- Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients (2008) (25)
- Maternal factors associated with severity of birth defects (1999) (24)
- A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred (2003) (24)
- Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. (2000) (24)
- Osteopetrosis: a single centre experience of stem cell transplantation and prenatal diagnosis (2001) (23)
- Inheritance of familial congenital isolated anorectal malformations: case report and review. (1997) (22)
- Monosomy 21: a possible stepwise evolution of the karyotype. (1979) (22)
- Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13 (2004) (21)
- Factors Affecting the Use of Prenatal Testing for Fetal Anomalities in a Traditional Society (2001) (20)
- Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (2000) (19)
- HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. (2002) (19)
- Lowering The Burden of Hereditary Diseases in a Traditional, Inbred Community: Ethical Aspects of Genetic Research and Its Application (1998) (19)
- PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY SINGLE STRANDED CONFORMATION POLYMORPHISM (SSCP) (1996) (17)
- In utero prenatal diagnosis of Beckwith-Wiedemann syndrome; a case report. (1989) (17)
- Attitudes toward the acceptability of reasons for pregnancy termination due to fetal abnormalities among prenatal care providers and consumers in Israel (2008) (17)
- Duplication of distal 22q. (1989) (17)
- Prenatal diagnosis of bartter syndrome (1994) (16)
- Primary Congenital Glaucoma Presenting Within the First Three Months of Life in a Bedouin Population: Prognostic Factors (2005) (16)
- Congenital nasal stenosis in newborn infants. (1992) (16)
- Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. (1992) (16)
- Congenital chylothorax‐prenatal ultrasonic diagnosis and successful post partum management (1986) (15)
- Women and health in Israel (2017) (15)
- Discordant Hirschsprung's disease in monozygotic twins. (1983) (14)
- [First trimester prenatal diagnosis]. (1984) (14)
- Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. (1997) (14)
- A de novo translocation, 14q21q, with a microchromosome-14p21p. (1985) (14)
- Growth Hormone Deficiency Type IB Caused by Cryptic Splicing of the GH-1 Gene (2000) (13)
- Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example (2008) (12)
- Congenital Glaucoma: CYP1B1 Mutations in Israeli Bedouin Kindreds (2010) (12)
- HSV-specific serum/CSF antibody ratio in association with HSV serum IgM antibodies in diagnosis of herpes encephalitis in infants. (1983) (12)
- The translocation 11q;22q: a novel unbalanced karyotype. (1990) (12)
- The relationship between congenital cardiovascular malformations and spontaneous abortion in preceding pregnancy. (1998) (11)
- A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease (1998) (11)
- A case of ambiguous genitalia owing to neurofibromatosis--review of the literature. (1988) (11)
- Clinical variability of partial duplication 1q: A clinical report and literature review (1987) (10)
- Different Perceptions and Attitudes regarding Prenatal Testing among Service Providers and Consumers in Israel (2007) (10)
- New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. (1993) (9)
- Malformation syndrome associated with small extra chromosome. (1980) (9)
- Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant. (1984) (8)
- Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab (1995) (8)
- Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings (1993) (7)
- Familial midgut anomalies--a spectrum of defects due to the same cause? (1981) (7)
- Weissenbacher‐Zweymuller Syndrome; Long‐term Follow‐up of Growth and Psychomotor Development (1991) (7)
- Pregnancy in women with cerebrotendinous xanthomatosis (CTX): high risk condition for fetus and newborn infant? (1988) (6)
- UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 ) (2003) (6)
- [A comprehensive program for prevention of genetic diseases among Arabs in Israel]. (2003) (5)
- Genetic counselling to a traditional society (1991) (5)
- Early prenatal ultrasonic diagnosis of thanatophoric dwarfism. (1990) (4)
- Hirschsprung disease in progeny of affected individuals: a case report and review of the literature. (1982) (4)
- Prenatal ultrasound diagnosis of complete absence of the lumbar spine and sacrum (1992) (4)
- Survival of a premature neonate with obstructive anuria due to Candida: the role of early sonographic diagnosis and antimycotic treatment (1988) (4)
- A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata. (1995) (4)
- Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis. (1987) (3)
- American Funding Cutback to East Jerusalem Hospitals: A Blow to the Health of the City. (2018) (2)
- Adrenoleukodystrophy in Israel: a genetic, clinical and biochemical study. (1984) (2)
- Prenatal ultrasonic diagnosis of cystic hygroma associated with fetal hydrops--report of two cases. (1989) (2)
- Cryptophthalmos syndrome. (2020) (2)
- Expedition Down Under (2002) (2)
- [Ellis-van Creveld syndrome]. (1986) (1)
- Jewish music and its implications for strengthening identity, imparting wisdom, and facilitating historical healing: An autoethnographic and performative inquiry into a life dedicated to Jewish music (2013) (1)
- The Task Force for the Promotion of the Status of Women in Medicine in Israel. (2018) (1)
- Subject Index Vol. 10, 2007 (2007) (0)
- Dedication Ceremony of the Aaron Klug Integrated Centre for Biomolecular Structure and Function (2012) (0)
- ACCEPTABILITY OF REASONS FOR PREGNANCY TERMINATION 519 dependent on the care provider ’ s counseling ) but also by their personal experience and their perceived ability to cope with the new situation (2008) (0)
- Reply to buddles et al. (2000) (0)
- MOLECULAR ANALYSIS OF A LARGE BEDOUIN KINDRED WITH IGHD, TYPE IB (1993) (0)
- Fragile-X Syndrome Ascertained by the Presence of Macro-orchidism in a 5-Month-Old Infant (1984) (0)
- [Diagnostic and genetic aspects of congenital radial ray deficiency]. (1985) (0)
- [Neurological symptoms associated with vitamin E deficiency]. (1995) (0)
- 562TSEI in mycosis fungoides[MF]: The influence of total dose and fractionation schedule on skin control and late skin toxicity (1996) (0)
- 1st presentation Pauline Sameshima’s story, “Seeing red” (2009) (0)
- HLA antigens in familial and sporadic cases of Hirschsprung's disease. (1990) (0)
- Contents Vol. 10, 2007 (2007) (0)
- Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. (2000) (0)
- Cross-Cultural Genetic Counseling (2004) (0)
- PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY SSCP ANALYSIS.868 (1996) (0)
- MULTIDISCIPLINARY TEAM FOR FETAL ANOMALIES (1990) (0)
- [Malaria in children of new immigrants from Ethiopia]. (1984) (0)
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